Canonical Allele Identifier: CA383548984

Gene: TNFRSF1A

Linked Data

• gnomAD v4: 12-6333069-T-G
• MyVariant Identifiers: chr12:g.6442235T>G (hg19) ; chr12:g.6333069T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333069T>G , CM000674.2:g.6333069T>G	GRCh38
NC_000012.11:g.6442235T>G , CM000674.1:g.6442235T>G	GRCh37
NC_000012.10:g.6312496T>G	NCBI36
NG_007506.1:g.14027A>C , LRG_193:g.14027A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.585A>C
ENST00000437813.8:c.551A>C	ENSP00000513672.1:p.Lys184Thr
ENST00000440083.7:c.770A>C	ENSP00000413224.3:p.Asn257Thr
ENST00000535958.2:c.*378A>C	ENSP00000513673.1:n.*378A>C
ENST00000698339.1:c.551A>C	ENSP00000513670.1:p.Lys184Thr
ENST00000698340.1:c.551A>C	ENSP00000513671.1:p.Lys184Thr
ENST00000162749.7:c.551A>C MANE Select	ENSP00000162749.2:p.Asn184Thr
ENST00000162749.6:c.551A>C	ENSP00000162749.2:p.Asn184Thr
ENST00000366159.8:c.551A>C	ENSP00000380389.3:p.Lys184Thr
ENST00000437813.7:n.512A>C
ENST00000534885.5:c.*28A>C	ENSP00000441803.1:n.*28A>C
ENST00000537842.5:n.155A>C
ENST00000539372.5:c.551A>C	ENSP00000442059.1:p.Asn184Thr
ENST00000540022.5:c.422A>C	ENSP00000438343.1:p.Asn141Thr
ENST00000543048.5:c.*162A>C	ENSP00000439981.1:n.*162A>C
ENST00000543359.5:n.37A>C
ENST00000543995.5:c.*138A>C	ENSP00000442405.1:n.*138A>C
NM_001065.3:c.551A>C , LRG_193t1:c.551A>C	NP_001056.1:p.Asn184Thr
NM_001346091.1:c.227A>C	NP_001333020.1:p.Asn76Thr
NM_001346092.1:c.-27A>C	NP_001333021.1:n.-27A>C
NR_144351.1:n.854A>C
NM_001065.4:c.551A>C MANE Select	NP_001056.1:p.Asn184Thr
NM_001346091.2:c.227A>C	NP_001333020.1:p.Asn76Thr
NM_001346092.2:c.-27A>C	NP_001333021.1:n.-27A>C
NR_144351.2:n.813A>C